Varaico: Literature-Extracted Genetic Variants

GLA

2,205 papers

RefSeq Summary

This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and i...

Pfam Domains

Melibiase_2aa 39–79UCSCAlpha galactosidase A

Melibiase_2aa 39–322UCSCAlpha galactosidase A

Melibiase_2_Caa 325–411UCSCAlpha galactosidase A C-terminal beta sandwich domain

Gene Aliases

HGNC Name

galactosidase alpha

HGNC Alias Symbol

GALA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000169.3

p.V124_S126delFs

c.370_377del8

Surrounding Variants

2 papers

NM_000169.3

p.S126R

c.378C>G

2 papers

NM_000169.3

p.S126R

c.378C>A

2 papers

NM_000169.3

p.S126I

c.377G>T

2 papers

NM_000169.3

p.S126T

c.377G>C

3 papers

NM_000169.3

p.S126N

c.377G>A

1 paper

NM_000169.3

p.K127*

c.379A>T

4 papers

NM_000169.3

p.S126C

c.376A>T

97 papers

NM_000169.3

p.S126G

c.376A>G

2 papers

NM_000169.3

p.S126R

c.376A>C

1 paper

NM_000169.3

p.S126_K127insCA

c.376_380ins6

2 papers

NM_000169.3

p.H125delFs

c.375delG

1 paper

NM_000169.3

p.V124_H125del2

c.370_374del6